| Metadata | |
|---|---|
| ID | DOID:0110944 |
| Name | autosomal recessive osteopetrosis 4 |
| Definition | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/11207362 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
infantile malignant osteopetrosis 2 [EXACT] OPTB4 [EXACT] |
| Parent Relationships |
is_a osteopetrosis |